Genome Res; auth.: group Reymond

Genome Res. 2014 Jun 10. pii: gr.167742.113.

Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.

Giannuzzi G1, Migliavacca E2, Reymond A2.

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Human and chimpanzee genomes are 98.8% identical within comparable sequence. They however differ structurally in nine pericentric inversions, one fusion that originated human chromosome 2 and content and localization of heterochromatin and lineage-specific segmental duplications. The possible functional consequences of these cytogenetic and structural differences are not fully understood and their possible involvement in speciation remains unclear. We show that subtelomeric regions – that have a species-specific organization, are more divergent in sequence, and are enriched in genes and recombination hotspots – are significantly enriched for species-specific histone modifications that decorate transcription start sites in different tissues in both human and chimpanzee. Human lineage-specific chromosome 2 fusion point and ancestral centromere locus as well as chromosome 1 and 18 pericentric inversion breakpoints showed enrichments of human-specific H3K4me3 peaks in prefrontal cortex. Our results reveal an association between plastic regions and potential novel regulatory elements.

Published by Cold Spring Harbor Laboratory Press.